Cargando…
Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis
Aceruloplasminemia (ACP) is a rare, adult-onset, autosomal recessive disorder, characterized by systemic iron overload due to mutations in the Ceruloplasmin gene (CP), which in turn lead to absence or strong reduction of CP activity. CP is a ferroxidase that plays a key role in iron export from vari...
Autores principales: | Marchi, Giacomo, Busti, Fabiana, Lira Zidanes, Acaynne, Castagna, Annalisa, Girelli, Domenico |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460567/ https://www.ncbi.nlm.nih.gov/pubmed/31024241 http://dx.doi.org/10.3389/fnins.2019.00325 |
Ejemplares similares
-
Cobalamin Deficiency in the Elderly
por: Marchi, Giacomo, et al.
Publicado: (2020) -
A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels
por: Lira Zidanes, Acaynne, et al.
Publicado: (2020) -
Anemia and Iron Deficiency in Cancer Patients: Role of Iron Replacement Therapy
por: Busti, Fabiana, et al.
Publicado: (2018) -
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis
por: Vila Cuenca, Marc, et al.
Publicado: (2020) -
Aceruloplasminemia: Waiting for an Efficient Therapy
por: Piperno, Alberto, et al.
Publicado: (2018)